{"id":25051,"date":"2024-02-12T11:36:25","date_gmt":"2024-02-12T10:36:25","guid":{"rendered":"https:\/\/idibell.cat\/?p=25051"},"modified":"2024-02-12T14:45:20","modified_gmt":"2024-02-12T13:45:20","slug":"les-proves-genetiques-permeten-millorar-el-diagnostic-de-les-causes-depilepsia","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2024\/02\/les-proves-genetiques-permeten-millorar-el-diagnostic-de-les-causes-depilepsia\/","title":{"rendered":"Les proves gen\u00e8tiques permeten millorar el diagn\u00f2stic de les causes d\u2019epil\u00e8psia"},"content":{"rendered":"<p>El grup de <a href=\"https:\/\/idibell.cat\/recerca\/area-de-neurociencies\/programa-de-neurociencies\/malalties-neurologiques-i-neurogenetica-2\/\">Malalties Neurol\u00f2giques i Neurogen\u00e8tica<\/a> de l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), membres de les Unitats d\u2019Epil\u00e8psia i de Gen\u00e8tica Cl\u00ednica de l\u2019Hospital Universitari de Bellvitge (HUB), han desenvolupat estudis gen\u00e8tics multidisciplinaris per identificar la causa de l\u2019epil\u00e8psia. Investigacions d\u2019aquest tipus s\u00f3n fonamentals, ja que s\u2019estima que fins al 30% dels afectats desconeixen l\u2019origen de la seva epil\u00e8psia. Aix\u00f2 complica enormement el disseny d\u2019aproximacions terap\u00e8utiques que puguin beneficiar els pacients, sobretot tenint en compte que existeixen moltes causes diferents per a aquest trastorn neurol\u00f2gic.<\/p>\n<p>Com apunta la Dra. Merc\u00e8 Falip, investigadora del grup de Malalties Neurol\u00f2giques i Neurogen\u00e8tica de l\u2019IDIBELL i coordinadora de la Unitat d\u2019Epil\u00e8psia de l\u2019HUB, l\u2019epil\u00e8psia \u201cno \u00e9s una malaltia, sin\u00f3 un s\u00edmptoma que pot correspondre a moltes malalties\u201d. \u201cPot iniciar-se per causes molt diverses amb una lesi\u00f3 al c\u00f2rtex, la part externa del cervell, com a tret en com\u00fa: un traumatisme cranial, un tumor, un problema en n\u00e9ixer, encefalitis o malalties degeneratives com l\u2019Alzheimer, entre d\u2019altres\u201d. Ara b\u00e9, a part d\u2019aquestes causes m\u00e9s aviat estructurals, l\u2019epil\u00e8psia tamb\u00e9 pot ser de base immunol\u00f2gica (per defectes del sistema immunitari, que ataca el propi individu) o gen\u00e8tica. Precisament, aquests estudis de panells de gens s\u2019han enfocat a descobrir les causes d\u2019aquest \u00faltim tipus d\u2019epil\u00e8psies.<\/p>\n<p>Per a fer-ho, durant el 2023 es van dur a terme estudis de panells de gens pels quals s\u2019havien identificat mutacions espec\u00edficament relacionades amb l\u2019epil\u00e8psia i l\u2019encefalopatia epil\u00e8ptica. Aix\u00ed, aquests estudis han aconseguit determinar la causa gen\u00e8tica de l\u2019epil\u00e8psia d\u2019un 28% m\u00e9s de pacients, que ja tenen un diagn\u00f2stic definitiu. \u201cHi ha persones que, abans d\u2019aquestes proves, portaven m\u00e9s d\u2019una d\u00e8cada sense con\u00e8ixer l\u2019origen de la seva epil\u00e8psia\u201d, destaca la Dra. Falip. I afegeix que \u201cels beneficis de trobar la malaltia que causa el trastorn no nom\u00e9s afecten el propi pacient, tamb\u00e9 s\u2019estenen als seus familiars m\u00e9s directes, que moltes vegades ja reben seguiment sanitari\u201d. A m\u00e9s, identificar causes gen\u00e8tiques de l\u2019epil\u00e8psia \u00e9s de gran import\u00e0ncia, ja que permetria aplicar-ho en programes de cribratge prenatal per facilitar l\u2019embar\u00e0s i poder preveure el trastorn amb antelaci\u00f3.<\/p>\n<p>La gen\u00e8tica esdev\u00e9, cada cop m\u00e9s, un pilar essencial en el diagn\u00f2stic de diverses malalties i trastorns com l\u2019epil\u00e8psia. \u201cL\u2019assessorament gen\u00e8tic, mitjan\u00e7ant la col\u00b7laboraci\u00f3 multidisciplin\u00e0ria, t\u00e9 un gran potencial i a l\u2019Hospital Universitari de Bellvitge ja estem veient els excel\u00b7lents resultats que aporta\u201d, com diu Anna Esteve, assessora gen\u00e8tica i coordinadora de la Unitat de Gen\u00e8tica Cl\u00ednica de l\u2019HUB. \u00c9s especialment rellevant la feina dels comit\u00e8s multidisciplinaris configurats per especialistes de la seva unitat i la Unitat d\u2019Epil\u00e8psia, que treballen plegats per determinar la causa de l\u2019epil\u00e8psia dels pacients, fent estudis d\u2019ampliaci\u00f3 mitjan\u00e7ant altres t\u00e8cniques gen\u00e8tiques si els primers resultats no s\u00f3n concloents. \u00c9s per tot aix\u00f2 que \u201cla necessitat de genetistes i assessors gen\u00e8tics als hospitals ha estat una reivindicaci\u00f3 hist\u00f2rica i el seu rol creixer\u00e0 encara m\u00e9s en els propers anys\u201d, preveu la Dra. Falip.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p><em>L\u2019Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l&#8217;Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l&#8217;Institut Catal\u00e0 de la Salut, l&#8217;Institut Catal\u00e0 d&#8217;Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\n<p><em>L\u2019IDIBELL \u00e9s membre del Campus d&#8217;Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L&#8217;any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Els estudis de panells de gens coordinats entre l\u2019IDIBELL i l\u2019HUB han aconseguit que un 28% m\u00e9s de pacients tinguin un diagn\u00f2stic definitiu<\/p>\n","protected":false},"author":8,"featured_media":25054,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[416,340,457],"tags":[],"class_list":["post-25051","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-malalties-neurologiques-i-neurogenetica","category-neurociencies","category-p-de-neurociencies"],"publishpress_future_action":{"enabled":false,"date":"2025-01-29 05:12:40","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/25051","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=25051"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/25051\/revisions"}],"predecessor-version":[{"id":25052,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/25051\/revisions\/25052"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/25054"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=25051"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=25051"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=25051"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}